Defective SLC6A2 causes orthostatic intolerance (OI)

Stable Identifier
R-HSA-5619109
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLC6A2 causes orthostatic intolerance (OI)
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SLC6A2 encodes the sodium-dependent noradrenaline transporter NAT1 which terminates the action of the neurotransmitter noradrenaline by transporting it from the synapse back to its vesicles for storage and reuse (Broer & Gether 2012, Schweikhard & Ziegler 2012). SLC6A2 is expressed in the CNS and adrenal glands. Defects in SLC6A2 can cause orthostatic intolerance (OI; MIM:604715), a syndrome characterised by lightheadedness, fatigue and development of symptoms during upright standing, relieved by sitting back down again. Plasma norepinephrine concentration is abnormally high (Lambert & Lambert 2014).
Literature References
PubMed ID Title Journal Year
25120493 Sympathetic dysfunction in vasovagal syncope and the postural orthostatic tachycardia syndrome

Lambert, GW, Lambert, E

Front Physiol 2014
22519513 The solute carrier 6 family of transporters

Gether, U, Broer, S

Br. J. Pharmacol. 2012
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
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Disease
Name Identifier Synonyms
syndrome DOID:225
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BioModels Database
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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